Associated Papers
CIC de novo loss of function variants contribute to cerebral folate deficiency by downregulating FOLR1 expression.
Cao X et al.
Journal of Medical Genetics, 2021
Polymorphisms in mitochondrial ribosomal protein S5 (MRPS5) are associated with leprosy risk in Chinese.
Xing Y et al.
Plos Neglected Tropical Diseases, 2020
33362202 (PubMed )
Supplement: pntd.0008883.s010.xlsx › S9-rare_variants_in_8_families
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